Canonical Allele Identifier: CA390513805

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745099C>G (hg19) ; chr14:g.77278756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278756C>G , CM000676.2:g.77278756C>G	GRCh38
NC_000014.8:g.77745099C>G , CM000676.1:g.77745099C>G	GRCh37
NC_000014.7:g.76814852C>G	NCBI36
NG_008897.1:g.47127G>C , LRG_844:g.47127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.930G>C
ENST00000556394.2:c.1546G>C	ENSP00000451967.2:p.Ala516Pro
ENST00000682128.1:c.306G>C	ENSP00000506976.1:n.306G>C
ENST00000682247.1:c.1994G>C	ENSP00000507213.1:p.Ser665Thr
ENST00000682395.1:n.2469G>C
ENST00000682459.1:n.1708G>C
ENST00000682467.1:c.1892-248G>C	ENSP00000508062.1:n.1892-248G>C
ENST00000682615.1:n.359G>C
ENST00000682795.1:c.2152G>C	ENSP00000507574.1:p.Ala718Pro
ENST00000682895.1:n.1721G>C
ENST00000682955.1:n.1579G>C
ENST00000683095.1:c.411G>C	ENSP00000508040.1:n.411G>C
ENST00000683188.1:c.2266G>C
ENST00000683380.1:n.1669G>C
ENST00000683907.1:c.270G>C	ENSP00000507754.1:n.270G>C
ENST00000684172.1:c.381G>C	ENSP00000508391.1:n.381G>C
ENST00000684259.1:n.3772G>C
ENST00000684538.1:n.1384G>C
ENST00000684549.1:n.1556G>C
ENST00000261534.9:c.2005G>C MANE Select	ENSP00000261534.4:p.Ala669Pro
ENST00000261534.8:c.2005G>C	ENSP00000261534.4:p.Ala669Pro
ENST00000452340.7:n.2981G>C
ENST00000554767.5:n.2791G>C
ENST00000555710.1:c.366G>C	ENSP00000451730.1:n.366G>C
ENST00000556394.1:c.88-248G>C
ENST00000556446.1:n.306G>C
ENST00000602717.5:c.220G>C	ENSP00000487704.1:p.Ala74Pro
NM_013382.5:c.2005G>C , LRG_844t1:c.2005G>C	NP_037514.2:p.Ala669Pro
XM_011536675.1:c.2194G>C	XP_011534977.1:p.Ala732Pro
XM_011536676.1:c.1861G>C	XP_011534978.1:p.Ala621Pro
XM_011536677.1:c.1735G>C	XP_011534979.1:p.Ala579Pro
XM_011536679.1:c.1288G>C	XP_011534981.1:p.Ala430Pro
XR_943416.1:n.2258G>C
XM_011536675.2:c.2194G>C	XP_011534977.1:p.Ala732Pro
XM_011536676.2:c.1861G>C	XP_011534978.1:p.Ala621Pro
XM_011536677.3:c.1735G>C	XP_011534979.1:p.Ala579Pro
XR_001750279.1:n.2291G>C
XR_001750282.1:n.2944G>C
XR_943416.3:n.2256G>C
NM_013382.6:c.2005G>C	NP_037514.2:p.Ala669Pro
NM_013382.7:c.2005G>C MANE Select	NP_037514.2:p.Ala669Pro